دورية أكاديمية
Citrullinemia type II accompanied by mental derangement combined with multidrug resistance 3 decrease, case report
العنوان: | Citrullinemia type II accompanied by mental derangement combined with multidrug resistance 3 decrease, case report |
---|---|
المؤلفون: | Hong Zhao, Xia Yu, Jinlin Cheng, Deying Chen, Qiaomai Xu, Jifang Sheng, Yu Shi |
المصدر: | Heliyon, Vol 9, Iss 11, Pp e21760- (2023) |
بيانات النشر: | Elsevier, 2023. |
سنة النشر: | 2023 |
المجموعة: | LCC:Science (General) LCC:Social sciences (General) |
مصطلحات موضوعية: | Citrullinemia type II, Multidrug resistance 3, SLC25A13, Mutation, Case report, Science (General), Q1-390, Social sciences (General), H1-99 |
الوصف: | Background: Here we report a rare case of citrullinemia type II (CTLN2) accompanied by mental derangement with a deficiency of multidrug resistance 3 (MDR3) in the liver. Case presentation: The clinical data of a 17-year-old girl were collected. Liver puncture was performed, and hepatic expression of MDR3 was determined by immunohistochemistry. Serum amino acids of the patient and her parents wwere determined by a chemical isotope labeling liquid chromatography−mass spectrometry (CIL LC-MS). Genetic mutations of ABCB4 and SLC25A13 were screened by whole-exome sequencing. Immunohistochemical analysis showed a remarkably lower expression of MDR3. Mutation in ABCB4 gene was not found and whole-exome sequencing revealed the SLC25A13 mutation 852–855 del. Elevated serum levels of citrulline, homocitrulline, and homoarginine in the patient and her mother were found. Conclusions: We reported a rare case of CTLN2 combined with MDR3 deficiency, without mutation of ABCB4. The link between MDR3 down-expression and CTLN2 warrants further investigation. Meanwhile, clinicians need to further rule out the possibility of CTLN2 if MDR3 decreases in adolescent patients with mental disorders and abnormal liver function. |
نوع الوثيقة: | article |
وصف الملف: | electronic resource |
اللغة: | English |
تدمد: | 2405-8440 |
Relation: | http://www.sciencedirect.com/science/article/pii/S2405844023089685; https://doaj.org/toc/2405-8440 |
DOI: | 10.1016/j.heliyon.2023.e21760 |
URL الوصول: | https://doaj.org/article/bce9a4daa743438ba6fe05575c9edb66 |
رقم الأكسشن: | edsdoj.bce9a4daa743438ba6fe05575c9edb66 |
قاعدة البيانات: | Directory of Open Access Journals |
تدمد: | 24058440 |
---|---|
DOI: | 10.1016/j.heliyon.2023.e21760 |